Table 1 CIMDRN-targeted IMD (n = 31); priority diseases (bold) have been selected by investigators for in-depth longitudinal data collection

Amino acid disorders:

• Phenylalanine hydroxylase (PAH) deficiency

• Homocystinuria

• Maple syrup urine disease

• Tyrosinemia

Urea cycle disorders:

• Arginase deficiency

• Argininosuccinic acidemia

• Carbamyl phosphate synthetase deficiency

• Citrin deficiency

• Citrullinemia

• Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome

• N-acetylglutamate synthetase deficiency

• Ornithine transcarbamylase deficiency

Organic acid disorders:

• β-ketothiolase deficiency

• Glutaric acidemia type I

• HMG-CoA lyase deficiency

• Isovaleric academia

• 3-methylcrotonyol-CoA carboxylase deficiency (3MCC)

• Methylmalonic acidemias (MMA)

• Propionic acidemia

Fatty acid oxidation disorders:

• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

• Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

• Carnitine uptake defect (CUD)

• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

• Trifunctional protein deficiency

Other disorders:

• Guanidinoacetate methyltransferase (GAMT) deficiency*

• Mucopolysaccharidosis type I (MPSI)*

• Farber disease*

• Galactosemia

• Glycogen storage disease type I

• Multiple carboxylase deficiency/biotinidase deficiency

• Pyridoxine-dependent epilepsy